rs770661102, SPG7

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lateral Sclerosis
CUI: C0154682
Disease: Lateral Sclerosis
0.010 GeneticVariation BEFREE Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family. 31117107 2019
Spastic Paraplegia Type 7
CUI: C3711370
Disease: Spastic Paraplegia Type 7
0.010 GeneticVariation BEFREE Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family. 31117107 2019
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.010 GeneticVariation BEFREE A mutation (c.2219A>G/p.Y740C) in exon 17 of SPG7 was identified in an adult-onset PLS patient and cosegregated with the affected members in this family. 31117107 2019